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The importance of routine genetic testing in pediatric epilepsy surgery.
Becker LL, Makridis KL, Abad-Perez AT, Thomale UW, Tietze A, Elger CE, Horn D, Kaindl AM. Becker LL, et al. Among authors: abad perez at. Epilepsia Open. 2024 Apr;9(2):800-807. doi: 10.1002/epi4.12916. Epub 2024 Feb 17. Epilepsia Open. 2024. PMID: 38366963 Free PMC article.
HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.
Gottschalk A, Sczakiel HL, Hülsemann W, Schwartzmann S, Abad-Perez AT, Grünhagen J, Ott CE, Spielmann M, Horn D, Mundlos S, Jamsheer A, Mensah MA. Gottschalk A, et al. Among authors: abad perez at. Genet Med. 2023 Nov;25(11):100928. doi: 10.1016/j.gim.2023.100928. Epub 2023 Jul 7. Genet Med. 2023. PMID: 37427568 Free article. Review.
Mast cells, cortistatin, and its receptor, MRGPRX2, are linked to the pathogenesis of chronic prurigo.
Kolkhir P, Pyatilova P, Ashry T, Jiao Q, Abad-Perez AT, Altrichter S, Vera Ayala CE, Church MK, He J, Lohse K, Metz M, Scheffel J, Türk M, Frischbutter S, Maurer M. Kolkhir P, et al. Among authors: abad perez at. J Allergy Clin Immunol. 2022 Jun;149(6):1998-2009.e5. doi: 10.1016/j.jaci.2022.02.021. Epub 2022 Mar 10. J Allergy Clin Immunol. 2022. PMID: 35283140